ClinVar Miner

Submissions for variant NC_000002.11:g.(?_200188506)_(200193653_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004582635 SCV005063252 uncertain significance Chromosome 2q32-q33 deletion syndrome 2023-01-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SATB2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant results in a copy number gain of the genomic region encompassing exon(s) 9-10 of the SATB2 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be in-frame, and likely preserves the integrity of the reading frame.

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